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ECFS standards of care on CFTR-related disorders: Towards a comprehensive program for affected individuals.
J Cyst Fibros. 2024 Feb 21:S1569-1993(24)00011-0. doi: 10.1016/j.jcf.2024.01.012. Online ahead of print.
J Cyst Fibros. 2024.
PMID: 38388234
Topics included are: 1) benefits and obstacles to collect data from pwCFTR-RD are discussed, together with the opportunity to integrate them into established CF-registries; 2) the potential of infants designated CRMS/CFSPID to develop a CFTR-RD and how to communicate this informa …
Topics included are: 1) benefits and obstacles to collect data from pwCFTR-RD are discussed, together with the opportunity to integrate them …
DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis.
Viel M, Hubert D, Burgel PR, Génin E, Honoré I, Martinez B, Gaitch N, Chapron J, Kanaan R, Dusser D, Girodon E, Bienvenu T.
Viel M, et al. Among authors: girodon e.
Clin Respir J. 2016 Nov;10(6):777-783. doi: 10.1111/crj.12288. Epub 2015 Apr 15.
Clin Respir J. 2016.
PMID: 25763772
BACKGROUND AND AIMS: Pseudomonas aeruginosa (Pa) infection in cystic fibrosis (CF) patients is associated with worse long-term pulmonary disease and shorter survival, and chronic Pa infection (CPA) is associated with reduced lung function, faster rate of lung decline, incr …
BACKGROUND AND AIMS: Pseudomonas aeruginosa (Pa) infection in cystic fibrosis (CF) patients is associated with worse long-term pulmon …
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A rare CFTR intronic mutation related to a mild CF disease in a 12-year-old girl.
Nathan N, Girodon E, Clement A, Corvol H.
Nathan N, et al. Among authors: girodon e.
BMJ Case Rep. 2012 Nov 9;2012:bcr2012006918. doi: 10.1136/bcr-2012-006918.
BMJ Case Rep. 2012.
PMID: 23144343
Free PMC article.
Although a classical steroid treatment did not allow the healing of the ABPA, an omalizumab therapy led to a long-term recovery. This case emphasises the need to search for rare CFTR gene mutations as far as possible when a CF disease is evocated. ...
Although a classical steroid treatment did not allow the healing of the ABPA, an omalizumab therapy led to a long-term recovery. This …
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